: Maladies humaines: hypochondroplasia

disease > genetic disease > hereditary disease > hypochondroplasia

disease > diseases of the osteoarticular system > osteochondrodysplasia > hypochondroplasia

hypochondroplasia

Hypochondroplasia (HCH) is a developmental disorder caused by an autosomal dominant genetic defect in the fibroblast growth factor receptor 3 gene (FGFR3) that results in a disproportionately short stature, micromelia and a head that appears large in comparison with the underdeveloped portions of the body. (Wikipedia)

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